Diseases with a genetic basis affect a majority of people during their lifetimes, specifically, syndromic genetic conditions, which, in aggregate, affect nearly 8% of the population and affect health and quality of life. Timely diagnosis allows the clinician to provide optimal health care, by prescribing indicated treatments, initiating screening for associated complications, and instituting supportive therapies where no specific treatment exists. A diagnosis is essential for providing information regarding prognosis and recurrence risk.
However, a proper diagnosis is evasive in many cases because the facial and other physiologic features (phenotypic features) associated with genetic diseases are too subtle to be recognized by a treating physician. Moreover, due to the rarity of many syndromes and the large number of possible disorders, achieving the correct diagnosis may not occur or may involve a lengthy and expensive work-up that may take years or even decades (the diagnostic odyssey). Accordingly, a need exists for systems and methods that address these drawbacks.